In genomes, three letters or bases of DNA encode an amino acid. Amino acids are then strung together by the cell to create proteins. There is some redundancy in that genetic code, but there are single ...

Relationship Among DNA Damage Response Gene Alterations, Molecular Subtypes, and Survival Outcomes in Patients With Metastatic Bladder Cancer Treated on CALGB 90601 Sequencing data from 56,965 ...

DeepMind is releasing AlphaMissense, a tool researchers can use to learn more about the effects that missense mutations – which make up the majority of "variants of uncertain significance" – have on ...

Researchers have identified a novel missense mutation in tyrosyl-tRNA synthetase (YARS c.499C>A, p.Pro167Thr) that causes a severe recessive disorder in affected individuals. The report includes ...

Dr. Courtney states, “When the SYNGAP1 gene encodes a truncation, caused by a nonsense, frame-shift or other mutation, loss of SynGAP1 protein results in disease. But what happens when there is a ...

MED23 is a subunit of the Mediator complex, a key regulator of protein-coding gene expression. Here, we report a missense mutation (p. R617Q) in MED23 that cosegregates with nonsyndromic autosomal ...

Artificial intelligence firm Google DeepMind has adapted its AlphaFold system for predicting protein structure to assess whether a huge number of simple mutations are harmful. The adapted system, ...

By Vijay Kumar Malesu By combining deep evolutionary signals with human population data, the popEVE model provides a novel ...